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1.
Dev Psychopathol ; : 1-13, 2023 Nov 22.
Artículo en Inglés | MEDLINE | ID: mdl-37990408

RESUMEN

Sensory differences and anxiety disorders are highly prevalent in autistic individuals with and without ADHD. Studies have shown that sensory differences and anxiety are associated and that intolerance of uncertainty (IU) plays an important role in this relationship. However, it is unclear as to how different levels of the sensory processing pathway (i.e., perceptual, affective, or behavioral) contribute. Here, we used psychophysics to assess how alterations in tactile perception contribute to questionnaire measures of sensory reactivity, IU, and anxiety. Thirty-eight autistic children (aged 8-12 years; 27 with co-occurring ADHD) were included. Consistent with previous findings, mediation analyses showed that child-reported IU fully mediated an association between parent-reported sensory reactivity and parent-reported anxiety and that anxiety partially mediated an association between sensory reactivity and IU. Of the vibrotactile thresholds, only simultaneous frequency discrimination (SFD) thresholds correlated with sensory reactivity. Interestingly, we found that sensory reactivity fully mediated an association between SFD threshold and anxiety, and between SFD threshold and IU. Taken together, those findings suggest a mechanistic pathway whereby tactile perceptual alterations contribute to sensory reactivity at the affective level, leading in turn to increased IU and anxiety. This stepwise association can inform potential interventions for IU and anxiety in autism.

2.
J Neurophysiol ; 111(9): 1803-11, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24523518

RESUMEN

Impaired responses to tactile stimulation are a commonly reported symptom among children with autism spectrum disorder (ASD). Furthermore, impairments in filtering or habituation to tactile input have been described in ASD. This study measured different aspects of tactile processing to investigate atypical touch sensitivity in children with ASD, methodology that has not been previously used in this population. Sixty-seven typically developing children (TDC) and 32 children with ASD (ages 8-12) completed vibrotactile tasks assessing: reaction time (RT); static and dynamic detection threshold (DT); amplitude discrimination with and without single-site adaptation; frequency discrimination; and temporal order judgment (TOJ) with and without concurrent stimulation. Children with ASD showed raised static detection thresholds and an absence of the effect of a dynamically increasing subthreshold stimulus on static detection threshold. Children with ASD also showed poorer amplitude discrimination than TDC, as well as decreased adaptation. There were no significant differences in frequency discrimination or TOJ performance between the groups. Differences in the effect of dynamic stimulation on detection threshold suggest impaired feed-forward inhibition in autism, which may be linked to poor sensory filtering. Increased baseline amplitude discrimination thresholds in ASD suggest that lateral inhibitory connections are weaker in ASD, and an absence of the effect of adaptation suggests impaired modulation of lateral inhibitory connections in ASD, which may relate to aberrant habituation. These results suggest a functional deficit in the somatosensory inhibitory system in autism. Understanding the specific mechanisms underlying sensory symptoms in autism may allow for more specific therapeutic or drug targeting in the near future.


Asunto(s)
Trastornos Generalizados del Desarrollo Infantil/fisiopatología , Percepción del Tacto , Tacto , Adaptación Fisiológica , Estudios de Casos y Controles , Niño , Femenino , Humanos , Masculino , Umbral Sensorial
3.
J Autism Dev Disord ; 2024 Jun 04.
Artículo en Inglés | MEDLINE | ID: mdl-38833030

RESUMEN

BACKGROUND: There is a substantial history studying the relationship between general intelligence and the core symptoms of autism. However, a gap in knowledge is how dimensional autism symptomatology associates with different components of clinically-relevant hierarchical models of intelligence. METHOD: We examined correlations between autism diagnostic symptom magnitude (Autism Diagnostic Observational Schedule; ADOS) and a hierarchical statistical model of intelligence. One autistic cohort was tested on the fourth edition of Wechsler Intelligence Scale for Children (WISC-IV; N = 131), and another on the fifth edition (WISC-V; N = 83). We anticipated a convergent pattern of results between cohorts. RESULTS: On WISC-IV, ADOS scores were correlated significantly with g and three out of four intermediate factor scores, which was a broader pattern of correlations than anticipated from the literature. In the WISC-V cohort, only one intermediate factor correlated significantly with the ADOS; correlations with g and the other intermediate factors were less statistically certain. ADOS-factor correlations were larger in the WISC-IV than WISC-V cohort; this difference was significant at the 90% level. CONCLUSIONS: WISC-IV shows dimensional relationships with ADOS at multiple points in the hierarchical model of intelligence. Moreover, the current results provide evidence that relationship between core autism symptomatology and the construct of general intelligence may depend on how intelligence is measured. Known cohort effects in the relationship between categorical autism diagnosis and general intelligence have previously been attributed to changes in autism diagnostic practices. To our knowledge, this is the first evidence that differing versions of IQ tests may be implicated.

4.
Front Psychol ; 14: 1060525, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36910768

RESUMEN

We used a large convenience sample (n = 22,223) from the Simons Powering Autism Research (SPARK) dataset to evaluate causal, explanatory theories of core autism symptoms. In particular, the data-items collected supported the testing of theories that posited altered language abilities as cause of social withdrawal, as well as alternative theories that competed with these language theories. Our results using this large dataset converge with the evolution of the field in the decades since these theories were first proposed, namely supporting primary social withdrawal (in some cases of autism) as a cause of altered language development, rather than vice versa. To accomplish the above empiric goals, we used a highly theory-constrained approach, one which differs from current data-driven modeling trends but is coherent with a very recent resurgence in theory-driven psychology. In addition to careful explication and formalization of theoretical accounts, we propose three principles for future work of this type: specification, quantification, and integration. Specification refers to constraining models with pre-existing data, from both outside and within autism research, with more elaborate models and more veridical measures, and with longitudinal data collection. Quantification refers to using continuous measures of both psychological causes and effects, as well as weighted graphs. This approach avoids "universality and uniqueness" tests that hold that a single cognitive difference could be responsible for a heterogeneous and complex behavioral phenotype. Integration of multiple explanatory paths within a single model helps the field examine for multiple contributors to a single behavioral feature or to multiple behavioral features. It also allows integration of explanatory theories across multiple current-day diagnoses and as well as typical development.

5.
J Autism Dev Disord ; 2023 Apr 28.
Artículo en Inglés | MEDLINE | ID: mdl-37118644

RESUMEN

BACKGROUND: The Wechsler Intelligence Scale for Children (WISC) employs a hierarchical model of general intelligence in which index scores separate out different clinically-relevant aspects of intelligence; the test is designed such that index scores are statistically independent from one another within the normative sample. Whether or not the existing index scores meet the desired psychometric property of being statistically independent within autistic samples is unknown. METHOD: We conducted a factor analysis on WISC fifth edition (WISC-V) (N = 83) and WISC fourth edition (WISC-IV) (N = 131) subtest data in children with autism. We compared the data-driven exploratory factor analysis with the manual-derived index scores, including in a typically developing (TD) WISC-IV cohort (N = 209). RESULTS: The WISC-IV TD cohort showed the expected 1:1 relationship between empirically derived factors and manual-derived index scores. We observed less unique correlations between our data-driven factors and manualized IQ index scores in both ASD samples (WISC-IV and WISC-V). In particular, in both WISC-IV and -V, working memory (WM) influenced index scores in autistic individuals that do not load on WM in the normative sample. CONCLUSIONS: WISC index scores do not show the desired statistical independence within autistic samples, as judged against an empirically-derived exploratory factor analysis. In particular, within the currently used WISC-V version, WM influences multiple index scores.

6.
Assessment ; : 10731911231198205, 2023 Sep 11.
Artículo en Inglés | MEDLINE | ID: mdl-37694841

RESUMEN

Anecdotal evidence has suggested that rater-based measures (e.g., parent report) may have strong across-trait/within-individual covariance that detracts from trait-specific measurement precision; rater measurement-related bias may help explain poor correlation within Autism Spectrum Disorder (ASD) samples between rater-based and performance-based measures of the same trait. We used a multi-trait, multi-method approach to examine method-associated bias within an ASD sample (n = 83). We examined performance/rater-instrument pairs for attention, inhibition, working memory, motor coordination, and core ASD features. Rater-based scores showed an overall greater methodology bias (57% of variance in score explained by method), while performance-based scores showed a weaker methodology bias (22%). The degree of inter-individual variance explained by method alone substantiates an anecdotal concern associated with the use of rater measures in ASD.

7.
J Autism Dev Disord ; 53(4): 1305-1318, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34859339

RESUMEN

Discernment of possible sex-based variations in presentations of autism spectrum disorder (ASD) symptoms is limited by smaller female samples with ASD and confounds with ASD ascertainment. A large national cohort of individuals with autism, SPARK, allowed parent report data to be leveraged to examine whether intrinsic child characteristics and extrinsic factors differentially impact males and females with ASD. Small but consistent sex differences in individuals with ASD emerged related to both intrinsic and extrinsic factors, with different markers for males and females. Language concerns in males may make discernment of ASD more straightforward, while early motor concerns in females may hamper diagnosis as such delays are not identified within traditional ASD diagnostic criteria.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Humanos , Masculino , Niño , Femenino , Adolescente , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Caracteres Sexuales , Lenguaje , Factores Sexuales
8.
Autism Res ; 16(6): 1210-1224, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-37097835

RESUMEN

Assessing cognitive development is critical in clinical research of autism spectrum disorder (ASD). However, collecting cognitive data from clinically administered assessments can add a significant burden to clinical research in ASD due to the substantial cost and time required, and it is often prohibitive in large-scale studies. There is a need for more efficient, but reliable, methods to estimate cognitive functioning for researchers, clinicians, and families. To examine the degree to which caregiver estimates of cognitive level agree with actual measured intelligence/developmental scores and understand factors that may impact that agreement, 1,555 autistic individuals (81.74% male; age 18 months-18 years) were selected from a large cohort (Simons Foundation Powering Autism Research for Knowledge, SPARK). Results suggest that querying parents about recent testing results and developmental diagnoses can provide valid and useful information on cognitive ability. The agreement of parental estimates varied with age, measured cognitive ability, autistic traits, and adaptive skills. In the context of large-scale research efforts, parent-reported cognitive impairment may be a good proxy for categorical IQ range for survey-based studies when specific IQ scores are not available, circumventing the logistical and financial obstacles of obtaining neuropsychological or neurodevelopmental testing.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Humanos , Masculino , Niño , Lactante , Femenino , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/psicología , Padres , Inteligencia , Cognición
9.
Res Sq ; 2023 Jan 10.
Artículo en Inglés | MEDLINE | ID: mdl-36712092

RESUMEN

Background Differences in responding to sensory stimuli, including sensory hyperreactivity (HYPER), hyporeactivity (HYPO), and sensory seeking (SEEK) have been observed in autistic individuals across sensory modalities, but few studies have examined the structure of these "supra-modal" traits in the autistic population. Methods Leveraging a combined sample of 3,868 autistic youth drawn from 12 distinct data sources (ages 3-18 years and representing the full range of cognitive ability), the current study used modern psychometric and meta-analytic techniques to interrogate the latent structure and correlates of caregiver-reported HYPER, HYPO, and SEEK within and across sensory modalities. Bifactor statistical indices were used to both evaluate the strength of a "general response pattern" factor for each supra-modal construct and determine the added value of "modality-specific response pattern" scores (e.g., Visual HYPER). Bayesian random-effects integrative data analysis models were used to examine the clinical and demographic correlates of all interpretable HYPER, HYPO and SEEK (sub)constructs. Results All modality-specific HYPER subconstructs could be reliably and validly measured, whereas certain modality-specific HYPO and SEEK subconstructs were psychometrically inadequate when measured using existing items. Bifactor analyses unambiguously supported the validity of a supra-modal HYPER construct (ω H = .800), whereas a coherent supra-modal HYPO construct was not supported (ω H = .611), and supra-modal SEEK models suggested a more limited version of the construct that excluded some sensory modalities (ω H = .799; 4/7 modalities). Within each sensory construct, modality-specific subscales demonstrated substantial added value beyond the supra-modal score. Meta-analytic correlations varied by construct, although sensory features tended to correlate most strongly with other domains of core autism features and co-occurring psychiatric symptoms. Certain subconstructs within the HYPO and SEEK domains were also associated with lower adaptive behavior scores. Limitations: Conclusions may not be generalizable beyond the specific pool of items used in the current study, which was limited to parent-report of observable behaviors and excluded multisensory items that reflect many "real-world" sensory experiences. Conclusion Psychometric issues may limit the degree to which some measures of supra-modal HYPO/SEEK can be interpreted. Depending on the research question at hand, modality-specific response pattern scores may represent a valid alternative method of characterizing sensory reactivity in autism.

10.
Mol Autism ; 14(1): 31, 2023 08 28.
Artículo en Inglés | MEDLINE | ID: mdl-37635263

RESUMEN

BACKGROUND: Differences in responding to sensory stimuli, including sensory hyperreactivity (HYPER), hyporeactivity (HYPO), and sensory seeking (SEEK) have been observed in autistic individuals across sensory modalities, but few studies have examined the structure of these "supra-modal" traits in the autistic population. METHODS: Leveraging a combined sample of 3868 autistic youth drawn from 12 distinct data sources (ages 3-18 years and representing the full range of cognitive ability), the current study used modern psychometric and meta-analytic techniques to interrogate the latent structure and correlates of caregiver-reported HYPER, HYPO, and SEEK within and across sensory modalities. Bifactor statistical indices were used to both evaluate the strength of a "general response pattern" factor for each supra-modal construct and determine the added value of "modality-specific response pattern" scores (e.g., Visual HYPER). Bayesian random-effects integrative data analysis models were used to examine the clinical and demographic correlates of all interpretable HYPER, HYPO, and SEEK (sub)constructs. RESULTS: All modality-specific HYPER subconstructs could be reliably and validly measured, whereas certain modality-specific HYPO and SEEK subconstructs were psychometrically inadequate when measured using existing items. Bifactor analyses supported the validity of a supra-modal HYPER construct (ωH = .800) but not a supra-modal HYPO construct (ωH = .653), and supra-modal SEEK models suggested a more limited version of the construct that excluded some sensory modalities (ωH = .800; 4/7 modalities). Modality-specific subscales demonstrated significant added value for all response patterns. Meta-analytic correlations varied by construct, although sensory features tended to correlate most with other domains of core autism features and co-occurring psychiatric symptoms (with general HYPER and speech HYPO demonstrating the largest numbers of practically significant correlations). LIMITATIONS: Conclusions may not be generalizable beyond the specific pool of items used in the current study, which was limited to caregiver report of observable behaviors and excluded multisensory items that reflect many "real-world" sensory experiences. CONCLUSION: Of the three sensory response patterns, only HYPER demonstrated sufficient evidence for valid interpretation at the supra-modal level, whereas supra-modal HYPO/SEEK constructs demonstrated substantial psychometric limitations. For clinicians and researchers seeking to characterize sensory reactivity in autism, modality-specific response pattern scores may represent viable alternatives that overcome many of these limitations.


Asunto(s)
Trastorno Autístico , Adolescente , Humanos , Teorema de Bayes , Cognición , Análisis de Datos , Fenotipo
11.
Clin Neuropsychol ; 36(5): 960-980, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-34473008

RESUMEN

A diagnosis of autism spectrum disorder (ASD) provides access to interventions that are important for fostering development and improving quality of life. Thus, the timeliness of a diagnosis should not be limited by social-distancing limitations whenever possible. Despite this, clear guidance for transitioning autism diagnostic services to a telehealth model of care in the era of the COVID-19 pandemic is lacking. At our Institute, we have adapted our approach to ASD evaluation to promote continued access to evaluation services during this unprecedented time. The purpose of this case series is to provide examples of three different approaches to ASD differential diagnostic services via telehealth that we have taken at our Institute.We illustrate our methods and clinical decision-making, based on patient characteristics and referral aims, in providing telehealth diagnostic services and discuss the advantages and limitations of telehealth utilization in the differential diagnosis of ASD.At our Institute, telehealth services have provided an invaluable opportunity to continue to confirm (or rule out) an ASD diagnosis when appropriate to facilitate access to services during this time. Future research examining the utility of telehealth in the differential diagnosis of ASD is imperative given the potential advantages of telehealth services beyond the COVID-19 pandemic for some patients.


Asunto(s)
Trastorno del Espectro Autista , COVID-19 , Telemedicina , Trastorno del Espectro Autista/diagnóstico , COVID-19/epidemiología , Humanos , Pruebas Neuropsicológicas , Pandemias , Calidad de Vida , Telemedicina/métodos
12.
J Autism Dev Disord ; 2022 Oct 22.
Artículo en Inglés | MEDLINE | ID: mdl-36272043

RESUMEN

Sensory differences are highly prevalent in autistic individuals. However, few studies have compared their presentation between autistic males and autistic females. We used psychophysics to assess and compare tactile perceptual sensitivity between autistic and non-autistic boys and girls aged between 8 and 12 years of age. While there were sex-differences of amplitude discrimination, frequency discrimination and order judgement thresholds, these sex-differences were not autism-specific. Mean RTs and detection thresholds were elevated in autism but were comparable between the sexes. Tactile sensitivity measures that are elevated in autism but are otherwise comparable between autistic males and autistic females suggest the possibility that certain sensory features could be used as sex-indifferent markers of autism. Further investigation with larger and more representative samples should be conducted before any stronger conclusions are made.

13.
J Autism Dev Disord ; 2022 Dec 26.
Artículo en Inglés | MEDLINE | ID: mdl-36571625

RESUMEN

ASD is a neurodevelopmental disorder impacting 1 in 44 children and early identification of children with ASD is critical for the intervention. Several screening measures have been developed for early identification, including the Autism Spectrum Rating Scales, 6-18 years Parent Report (ASRS). The ASRS has been understudied, and the current study assessed the validity of the ASRS in a clinical sample of 490 children at a tertiary ASD-specialty clinic. Results indicated that the ASRS demonstrated favorable sensitivity, but poor specificity. True positive screening results were more likely to occur for children with a multiracial background, while they were less likely to occur for children with a high social capital. Overall, though the ASRS has clinical utility as a screening measure, it did not perform effectively to differentiate ASD from Non-ASD clinical disorders.

14.
Clin Neuropsychol ; 36(5): 1069-1093, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-34315336

RESUMEN

OBJECTIVE: To examine overlap and divergence of symptomatology in Autism Spectrum Disorder (ASD) with and without co-occurring Attention/Deficit Hyperactivity Disorder (ADHD) and/or Anxiety Disorder by age and sex. METHOD: Participants included 25,078 individuals registered in the SPARK cohort, age 6-18 years. SPARK participation includes online consent and registration, as well as parent-reported ASD, ADHD, and Anxiety Disorder diagnoses, developmental, medical, and intervention history, and standardized rating scales. Individuals with ASD, ASD + ADHD, ASD + Anxiety, or ASD + ADHD + Anxiety were compared on measures assessing social communication, restricted and repetitive behaviors (RRBs), and motor functioning, and differences between male and female profiles were examined. RESULTS: Significant differences in symptom presentation between females/males, school-age/adolescent individuals, and by co-occurring conditions (ASD/ADHD/Anxiety) are apparent, and the impact of co-occurring conditions differed by age and sex. Most notably, school-age femaleswith ASD without co-occurring conditions present with significantly fewer concerns about social communication skills and have better motor skills, but have more prominent RRBs as compared to same-aged males with ASD alone; co-occurring conditions were associated with increased social communication problems and motor concerns, most consistently for school-age females. CONCLUSIONS: School-age females with ASD are at highest risk for underestimation of autism-related symptoms, including underestimation of symptoms beyond core ASD features (motor skills). Further, across ages, particular consideration should be given when probing for social communication symptoms, RRBs, and motor skills in females with ASD alone, as well as with co-occurring ADHD and/or Anxiety. For females with co-occurring symptoms and conditions, use of symptom-specific measures in lieu of omnibus measures should be considered.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Trastorno Autístico , Adolescente , Trastornos de Ansiedad/complicaciones , Trastornos de Ansiedad/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas
15.
Commun Biol ; 4(1): 97, 2021 01 22.
Artículo en Inglés | MEDLINE | ID: mdl-33483581

RESUMEN

Alterations of tactile processing have long been identified in autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). However, the extent to which these alterations are disorder-specific, rather than disorder-general, and how they relate to the core symptoms of each disorder, remains unclear. We measured and compared tactile detection, discrimination, and order judgment thresholds between a large sample of children with ASD, ADHD, ASD + ADHD combined and typically developing controls. The pattern of results suggested that while difficulties with tactile detection and order judgement were more common in children with ADHD, difficulties with tactile discrimination were more common in children with ASD. Interestingly, in our subsequent correlation analyses between tactile perception and disorder-specific clinical symptoms, tactile detection and order judgment correlated exclusively with the core symptoms of ADHD, while tactile discrimination correlated exclusively with the symptoms of ASD. When taken together, these results suggest that disorder-specific alterations of lower-level sensory processes exist and are specifically related to higher-level clinical symptoms of each disorder.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/psicología , Trastorno del Espectro Autista/psicología , Percepción del Tacto , Estudios de Casos y Controles , Niño , Femenino , Humanos , Masculino
16.
Mol Autism ; 12(1): 42, 2021 06 07.
Artículo en Inglés | MEDLINE | ID: mdl-34099040

RESUMEN

BACKGROUND: Individuals on the autism spectrum are reported to display alterations in interoception, the sense of the internal state of the body. The Interoception Sensory Questionnaire (ISQ) is a 20-item self-report measure of interoception specifically intended to measure this construct in autistic people. The psychometrics of the ISQ, however, have not previously been evaluated in a large sample of autistic individuals. METHODS: Using confirmatory factor analysis, we evaluated the latent structure of the ISQ in a large online sample of adults on the autism spectrum and found that the unidimensional model fit the data poorly. Using misspecification analysis to identify areas of local misfit and item response theory to investigate the appropriateness of the seven-point response scale, we removed redundant items and collapsed the response options to put forth a novel eight-item, five-response choice ISQ. RESULTS: The revised, five-response choice ISQ (ISQ-8) showed much improved fit while maintaining high internal reliability. Differential item functioning (DIF) analyses indicated that the items of the ISQ-8 were answered in comparable ways by autistic adolescents and adults and across multiple other sociodemographic groups. LIMITATIONS: Our results were limited by the fact that we did not collect data for typically developing controls, preventing the analysis of DIF by diagnostic status. Additionally, while this study proposes a new 5-response scale for the ISQ-8, our data were not collected using this method; thus, the psychometric properties for the revised version of this instrument require further investigation. CONCLUSION: The ISQ-8 shows promise as a reliable and valid measure of interoception in adolescents and adults on the autism spectrum, but additional work is needed to examine its psychometrics in this population. A free online score calculator has been created to facilitate the use of ISQ-8 latent trait scores for further studies of autistic adolescents and adults (available at https://asdmeasures.shinyapps.io/ISQ_score/ ).


Asunto(s)
Trastorno Autístico , Interocepción , Adolescente , Adulto , Trastorno Autístico/diagnóstico , Humanos , Psicometría , Reproducibilidad de los Resultados , Encuestas y Cuestionarios
17.
Transl Psychiatry ; 11(1): 411, 2021 07 29.
Artículo en Inglés | MEDLINE | ID: mdl-34326312

RESUMEN

Individuals on the autism spectrum are often reported as being hyper- and/or hyporeactive to sensory input. These sensory symptoms were one of the key observations that led to the development of the altered excitation-inhibition (E-I) model of autism, which posits that an increase ratio of excitatory to inhibitory signaling may explain certain phenotypical expressions of autism spectrum disorders (ASD). While there has been strong support for the altered E-I model of autism, much of the evidence has come from animal models. With regard to in-vivo human studies, evidence for altered E-I balance in ASD come from studies adopting magnetic resonance spectroscopy (MRS). Spectral-edited MRS can be used to provide measures of the levels of GABA + (GABA + macromolecules) and Glx (glutamate + glutamine) in specific brain regions as proxy markers of inhibition and excitation respectively. In the current study, we found region-specific elevations of Glx in the primary sensorimotor cortex (SM1) in ASD. There were no group differences of GABA+ in either the SM1 or thalamus. Higher levels of Glx were associated with more parent reported difficulties of sensory hyper- and hyporeactivity, as well as reduced feed-forward inhibition during tactile perception in children with ASD. Critically, the finding of elevated Glx provides strong empirical support for increased excitation in ASD. Our results also provide a clear link between Glx and the sensory symptoms of ASD at both behavioral and perceptual levels.


Asunto(s)
Trastorno del Espectro Autista , Glutamina , Niño , Ácido Glutámico , Humanos , Espectroscopía de Resonancia Magnética , Ácido gamma-Aminobutírico
18.
Pediatr Diabetes ; 11(3): 203-7, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-19686306

RESUMEN

Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal diabetes. Patients with this mutation have been successfully transitioned from insulin to sulfonylurea (SU) therapy without compromise in their glycemic control. Among patients with neonatal diabetes due to KCNJ11 mutations, approximately 25% have neurological findings including developmental delay, motor dysfunction, and epilepsy, known as DEND syndrome. There have been rare cases of juvenile patients with intermediate DEND syndrome (iDEND) reporting variable improvement in neurological function following transition from insulin to SU treatment. We describe the response to glyburide in a 15-yr-old boy with severe global developmental delays resulting from the KCNJ11 mutation V59M. The patient was discovered to have diabetes mellitus at 11.5 months of age, making this the oldest age at diagnosis of a KCNJ11 mutation-related case of neonatal diabetes. Because consensus has been to screen patients for this mutation only if younger than 6 months at the time of diagnosis, we suggest that all patients under the age of 12 months at diagnosis should receive genetic testing for monogenic causes of diabetes.


Asunto(s)
Discapacidades del Desarrollo/tratamiento farmacológico , Diabetes Mellitus Tipo 1/congénito , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Epilepsia/tratamiento farmacológico , Gliburida/administración & dosificación , Insulina/administración & dosificación , Canales de Potasio de Rectificación Interna/genética , Administración Oral , Adolescente , Continuidad de la Atención al Paciente , Discapacidades del Desarrollo/complicaciones , Diabetes Mellitus Tipo 1/complicaciones , Epilepsia/complicaciones , Humanos , Hipoglucemiantes/administración & dosificación , Recién Nacido , Infusiones Subcutáneas , Masculino , Síndrome , Privación de Tratamiento
20.
Arch Clin Neuropsychol ; 34(8): 1418-1424, 2019 Nov 27.
Artículo en Inglés | MEDLINE | ID: mdl-30608513

RESUMEN

OBJECTIVE: A number of studies have documented the benefits of neuropsychological evaluation as a tool for understanding brain-behavior relationships in various childhood disorders; however, little is known about the process by which children are referred for neuropsychological evaluation. From a systems perspective, it is important to understand whether there are identifiable referral patterns, and if so, how being aware of such patterns could shape the behavior of providers making those referrals. We aim to examine child characteristics that influence referral for neuropsychological evaluation. METHODS: Retrospective chart review of 773 children who received neuropsychological evaluation and were diagnosed with autism, attention-deficit/hyperactivity disorder, and/or anxiety was completed. Children were divided into groups based on referral source (professional or caregiver) and compared on demographic, behavioral, and medical characteristics. RESULTS: Overall, professionals were more likely than caregivers to refer children for neuropsychological evaluation. Though standardized measures suggested children referred by professionals and caregivers were similar, their clinical presentation appears to be different (i.e., those referred by professionals had more comorbidities and were more likely to be prescribed psychotropic medication than those referred by caregivers). Also, children with public insurance were more likely to be referred by a professional than by their caregiver. CONCLUSIONS: Findings highlight the important role of professionals in identifying "at-risk" children and supporting families through the process of receiving further evaluation when indicated. This information can be used to create a more efficient system for evaluating children and developing treatment plans, providing neuropsychologists with direct information to share with referral sources.


Asunto(s)
Pruebas Neuropsicológicas , Derivación y Consulta/estadística & datos numéricos , Factores Socioeconómicos , Adolescente , Trastornos de Ansiedad/psicología , Trastorno por Déficit de Atención con Hiperactividad/psicología , Trastorno Autístico/psicología , Cuidadores , Niño , Preescolar , Comorbilidad , Demografía , Femenino , Personal de Salud/estadística & datos numéricos , Humanos , Seguro de Salud/estadística & datos numéricos , Masculino , Psicotrópicos/uso terapéutico , Estudios Retrospectivos , Adulto Joven
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